(Q37035773)

17 August 2017

1 reference

title

Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease (English)

1 reference

17 August 2017

Dale W Laird

1

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language of work or name

English

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publication date

18 December 2007

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Journal of Biological Chemistry

17 August 2017

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17 August 2017

283

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17 August 2017

6

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17 August 2017

2997-3001

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X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

17 August 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Connexin disorders of the ear, skin, and lens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Molecular genetics of hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

21 January 2018

Connexin gene pathology

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Gap junction diseases of the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Connexin phosphorylation as a regulatory event linked to gap junction internalization and degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Life cycle of connexins in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Connexin mutations in hearing loss, dermatological and neurological disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Neurological manifestations of the oculodentodigital dysplasia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Connexin levels regulate keratinocyte differentiation in the epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Differentiation of organotypic epidermis in the presence of skin disease-linked dominant-negative Cx26 mutants and knockdown Cx26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.R700041200

21 January 2018

Identifiers

DOI

10.1074/JBC.R700041200

1 reference

17 August 2017

1 reference

PubMed ID

18089569